IGFBP7 gene related symptoms and diseases

All the information presented here about the IGFBP7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to IGFBP7 gene

Symptoms // Phenotype % Cases
Visual loss Very Common - Between 80% and 100% cases
Pulmonic stenosis Very Common - Between 80% and 100% cases
Vasculitis Very Common - Between 80% and 100% cases
Abnormal retinal morphology Very Common - Between 80% and 100% cases
Exudative retinal detachment Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with IGFBP7 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Retinal arterial macroaneurysms
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Rare diseases associated to IGFBP7 gene

Here you will find a list of rare diseases related to the IGFBP7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FAMILIAL RETINAL ARTERIAL MACROANEURYSM


Alternate names

FAMILIAL RETINAL ARTERIAL MACROANEURYSM Is also known as fram, retinal arterial macroaneurysm and supravalvular pulmonic stenosis

Description

Familial retinal arterial macroaneurysm is a rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction.

Most common symptoms of FAMILIAL RETINAL ARTERIAL MACROANEURYSM

  • Visual loss
  • Pulmonic stenosis
  • Vasculitis
  • Abnormal retinal morphology
  • Exudative retinal detachment


More info about FAMILIAL RETINAL ARTERIAL MACROANEURYSM

SOURCES: ORPHANET OMIM


Potential gene panels for IGFBP7 gene

IGFBP7 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the IGFBP7 gene.

More info about this panel


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